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rs869312723

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312723(-;-)
Make rs869312723(-;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position6115823
GeneFERMT1
is asnp
is mentioned by
dbSNPrs869312723
dbSNP (classic)rs869312723
ClinGenrs869312723
ebirs869312723
HLIrs869312723
Exacrs869312723
Gnomadrs869312723
Varsomers869312723
LitVarrs869312723
Maprs869312723
PheGenIrs869312723
Biobankrs869312723
1000 genomesrs869312723
hgdprs869312723
ensemblrs869312723
geneviewrs869312723
scholarrs869312723
googlers869312723
pharmgkbrs869312723
gwascentralrs869312723
openSNPrs869312723
23andMers869312723
SNPshotrs869312723
SNPdbers869312723
MSV3drs869312723
GWAS Ctlgrs869312723
Max Magnitude0
ClinVar
Risk rs869312723(-;-)
Alt rs869312723(-;-)
Reference Rs869312723(T;T)
Significance Pathogenic
Disease Kindler's syndrome
Variation info
Gene FERMT1
CLNDBN Kindler's syndrome
Reversed 1
HGVS NC_000020.10:g.6096470delA
CLNSRC
CLNACC RCV000209899.1,